Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001806821 | SCV002051346 | pathogenic | Qualitative or quantitative defects of dystrophin | 2021-12-23 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 4-18 in the DMD gene. A presumed nomenclature of c.(186+1_187-1)_(2292+1_2293-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a large in-frame deletion change in the DMD gene, a known mechanism of disease. The variant was absent in 16120 control chromosomes. c.(186+1_187-1)_(2292+1_2293-1)del has been reported in the literature in individuals affected with Dystrophinopathies (e.g. Winnard_1993, Giliberto_2004). These data indicate that the variant may be associated with disease. The patient who carrying this variant produced no dystrophin (Winnard_1993). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |